Inborn errors of immunity in adulthood.

Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is now estimated that more than 50% of worldwide incident IEI cases are accounted for by adults. Delayed diagnosis, late symptom onset, and IEI phenocopies can all lead to adult-onset recognition of IEIs. Lack of awareness regarding the diversity of IEI manifestations in adults contributes to diagnostic and treatment delays. Prompt referral to immunology is critical so that patients can receive a precise molecular diagnosis and targeted therapy when available. This article serves as a primer on IEIs in adulthood, highlighting the pathophysiology, epidemiology and clinical features. We present clinical vignettes of three key IEIs to assist clinicians in building illness scripts on their presentations. We provide a framework for the laboratory evaluation of IEIs and their initial treatment, with the aim of improving recognition and management of these conditions.

Cyanoacrylate Glue Versus Absorbable Tacks in Mesh Fixation for Laparoscopic Extraperitoneal Inguinal Hernia Repair: A Randomized Controlled Trial.

BACKGROUND: Cyanoacrylate glue (Glubran 2) is a synthetic adhesive mesh fixation material. Its utility is being evaluated in laparoscopic total extraperitoneal (TEP) inguinal hernia repair (IHR). A multicentre randomized controlled trial was performed comparing Glubran 2 to standard of care absorbable tacks, particularly assessing chronic postoperative inguinal pain and its effects. MATERIALS AND METHODS: Patients undergoing elective TEP IHR at 2 centers from 2017 to 2019 were randomly assigned to Glubran 2 or absorbable tack mesh fixation, and followed for 6 months. All other aspects of surgery and aftercare remained the same. Surgeons documented operative and fixation time, and the placement of fixation on standardized diagrams. Via a questionnaire, aspects of inguinal pain were evaluated before surgery, and at various time-points postoperatively over 6 months. Postoperative clinical factors were also collected. RESULTS: A total of 106 operative sides were randomized to either glue (51) or tack (55) mesh fixation over a 14-month period. Similar median operative times between tack (83.0 min) and glue fixation (75.0 min) were observed. There were no significant surgical complications or observed hernia recurrences in either group. There was no significant difference in pain scores between the 2 groups at all time-points after analysis through mixed effects modeling. Temporal pain profiles over time were also similar. Totally, 55% of patients in the glue group had returned to work within 2 weeks of surgery. There was no increase in complications or pain scores despite regular lateral fixation of glue in these patients. CONCLUSION: Adding to known data, we observed no significant difference in postoperative pain, demonstrating that cyanoacrylate glue is a viable and safe alternative fixation method to absorbable tacks in laparoscopic TEP IHR. As secondary outcomes, cyanoacrylate glue permits some patients to return to work early, and we observed regular lateral mesh glue fixation without increased pain or complications.

DRESS induced by amoxicillin-clavulanate in two pediatric patients confirmed by lymphocyte toxicity assay.

BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare but serious delayed hypersensitivity reaction that can be caused by antibiotic exposure. The reaction typically develops in 2 to 6 weeks. The pathophysiology is thought to involve toxic drug metabolites acting as a hapten, triggering a systemic response. The diagnosis is made clinically but can be confirmed using assays such as the lymphocyte toxicity assay (LTA), which correlates cell death upon exposure to drug metabolites with susceptibility to hypersensitivity reactions. CASE PRESENTATIONS: Case 1 involves a previously healthy 11-month-old male with first exposure to amoxicillin-clavulanate, prescribed for seven days to treat a respiratory infection. The patient developed DRESS fourteen days after starting the drug and was successfully treated with corticosteroids. LTA testing confirmed patient susceptibility to hypersensitivity reactions with amoxicillin-clavulanate. Parental samples were also tested, showing both maternal and paternal susceptibility. Neither parent reported prior hypersensitivity reactions. Lifelong penicillin avoidance for the patient was advised along with the notation in medical records of penicillin allergy. The parents were advised to avoid penicillin class antibiotics and be monitored closely for DRESS if they are exposed. Case 2 involves an 11-year-old female with atopic dermatitis with first exposure to amoxicillin-clavulanate, prescribed for ten days to treat a secondary bacterial skin infection. She developed DRESS eleven days after starting antibiotics and was successfully treated with corticosteroids. LTA testing confirmed patient susceptibility to hypersensitivity reactions with amoxicillin-clavulanate. Maternal samples were also tested and showed sensitivity. The mother reported no prior hypersensitivity reactions. Lifelong penicillin avoidance for the patient was advised along with the notation in medical records of penicillin allergy. CONCLUSIONS: Amoxicillin-clavulanate is a commonly used antibiotic and the cases we have described suggest that it should be recognized as a potential cause of DRESS in pediatric patients. Furthermore, these cases contribute to current literature supporting that there may be a shorter latent period in DRESS induced by antibiotics. We have also shown that the LTA can be a helpful tool to confirm DRESS reactions, and that testing may have potential implications for family members.

How to minimize airborne droplet contamination while performing laparoscopy in the COVID-19 era.

We describe a safe technique for controlled deflation of pneumoperitoneum to facilitate safe laparoscopic surgery in the coronavirus disease 2019 (COVID-19) era.

Management of choledocholithiasis in an emergency cohort undergoing laparoscopic cholecystectomy: a single-centre experience.

INTRODUCTION: Minimally-invasive options for the management of choledocholithiasis in patients undergoing laparoscopic cholecystectomy include laparoscopic and endoscopic approaches. This study reviews the effectiveness of both approaches in an emergency setting. METHODS: A retrospective chart review was performed for a cohort of patients who underwent laparoscopic cholecystectomy. Outcomes assessed were duct clearance, the number of procedures performed (NPP), length of stay (LOS) and complication rate. RESULTS: A total of 182 patients who underwent emergency laparoscopic cholecystectomies received intervention for choledocholithiasis. The duct clearance rate was lower in the laparoscopic group, 63% versus 86% (P = 0.001). However, the median NPP was also lesser in the laparoscopic group, 1 (interquartile range (IQR) 1-2) versus 2 (IQR 2-2) (P < 0.001), as was the median LOS, 5 days (IQR 3-8) versus 7 days (IQR 6-10) (P = 0.009). Forty-eight laparoscopic endobiliary stents were attempted; stent deployment was successful in 37 patients. A larger proportion of patients with laparoscopic endobiliary stents had duct clearance by endoscopic retrograde cholangiopancreatography (ERCP) compared with those without, although this was not statistically significant (P = 0.208). CONCLUSION: Laparoscopic clearance is not as effective as post-operative ERCP in an emergency cohort, but is associated with fewer procedures required and a shorter inpatient stay. Thus, laparoscopic clearance may still be an attractive option for surgeons especially where conditions are favourable during an emergency laparoscopic cholecystectomy.

Laparoscopic excision of a lower posterior mediastinal paraspinal mass: technique and feasibility of the laparoscopic approach.

Paravertebral and paraspinal tumors in the posterior mediastinum are predominantly neurogenic in origin. The treatment comprises surgical extirpation. We report a case of a 40-year-old man with a 2-month history of pain epigastrium, radiating to the left scapula, and marked (10 kg) weight loss. Preoperative CT scan showed a paraspinal mass 8 cm in diameter at the level of the tenth thoracic vertebra. A CT scan-guided fine-needle aspiration cytologic analysis revealed the mass to be of neurogenic origin. Transabdominal laparoscopic excision of this lower posterior mediastinal neurogenic tumor was attempted and accomplished safely. The approach was through the left crural fibers, which were split to access the lower posterior mediastinum. Operating time was 122 minutes. Postoperatively, a left intercostal drain was inserted. The patient was discharged on the third postoperative day, after intercostal drain removal. Lower posterior mediastinal paraspinal tumors can be resected laparoscopically with careful preoperative investigation for tumor localization and a meticulous laparoscopic technique. A major advantage of transabdominal laparoscopic resection, as compared with open or thoracoscopic (VATS) excision, is that the patient recovers rapidly with minimal operative and anesthetic morbidity.

Laparoscopic cholecystectomy in situs inversus totalis: a case report.

Some of the numerous anomalies of the biliary tract and its vasculature are incompatible with life, whereas others are only medical curiosities. Many, however, are the cause of symptoms, and all are of particular concern to the surgeon who must operate in this area. An example is situs inversus totalis, an anomaly of the biliary tract that can present difficulties in management of abdominal disorders. We present a case of transposition of the viscera (situs inversus) with cholelithiasis, treated successfully with laparoscopy cholecystectomy. This article further affirms the safety and efficacy of laparoscopy in the setting of situs inversus totalis after giving due attention to the details of left-right reversal.

Complete laparoscopic management of choledochal cyst: report of two cases.

BACKGROUND: Choledochal cyst is a rare congenital anomaly of the biliary tract. With increased familiarity with the laparoscopic anatomy of the biliary tract and advances in minimally invasive techniques, surgeons have ventured further to operate on technically difficult cases such as choledochal cyst that were until recently managed by laparotomy. PATIENTS AND METHODS: We present our experience with two female patients aged 14 years and 26 years with choledochal cyst (type I according to the Alonzo-Lej classification) that were successfully excised with construction of a Roux-en-Y hepaticojejunostomy entirely laparoscopically. RESULTS: Both patients had an uneventful recovery, with no major morbidity. The first patient had a bile leak, which resolved over 5 days. Both were discharged by the 5(th) postoperative day. CONCLUSION: Laparoscopic management of choledochal cyst is feasible although technically difficult and may be performed in specialized institutes dealing with advanced laparoscopic surgery.